Canonical Allele Identifier: CA1589892330
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107437_148107438delinsAG , CM000667.2:g.148107437_148107438delinsAG GRCh38
NC_000005.9:g.147487000_147487001delinsAG , CM000667.1:g.147487000_147487001delinsAG GRCh37
NC_000005.8:g.147467193_147467194delinsAG NCBI36
NG_009633.1:g.48466_48467delinsAG , LRG_110:g.48466_48467delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+273_1216+274delinsAG
ENST00000256084.8:c.1607+273_1607+274delinsAG MANE Select ENSP00000256084.7:n.1607+273_1607+274delinsAG
ENST00000256084.7:c.1607+273_1607+274delinsAG ENSP00000256084.7:n.1607+273_1607+274delinsAG
ENST00000359874.7:c.1607+273_1607+274delinsAG ENSP00000352936.3:n.1607+273_1607+274delinsAG
ENST00000398454.5:c.1607+273_1607+274delinsAG ENSP00000381472.1:n.1607+273_1607+274delinsAG
ENST00000507988.5:n.1771+273_1771+274delinsAG
ENST00000508733.5:c.1550+273_1550+274delinsAG ENSP00000421519.1:n.1550+273_1550+274delinsAG
NM_001127698.1:c.1607+273_1607+274delinsAG NP_001121170.1:n.1607+273_1607+274delinsAG
NM_001127699.1:c.1607+273_1607+274delinsAG NP_001121171.1:n.1607+273_1607+274delinsAG
NM_006846.3:c.1607+273_1607+274delinsAG , LRG_110t1:c.1607+273_1607+274delinsAG NP_006837.2:n.1607+273_1607+274delinsAG
XM_011537550.1:c.1550+273_1550+274delinsAG XP_011535852.1:n.1550+273_1550+274delinsAG
XM_011537551.1:c.1523+273_1523+274delinsAG XP_011535853.1:n.1523+273_1523+274delinsAG
XM_011537551.2:c.1523+273_1523+274delinsAG XP_011535853.1:n.1523+273_1523+274delinsAG
NM_001127698.2:c.1607+273_1607+274delinsAG NP_001121170.1:n.1607+273_1607+274delinsAG
NM_001127699.2:c.1607+273_1607+274delinsAG NP_001121171.1:n.1607+273_1607+274delinsAG
NM_006846.4:c.1607+273_1607+274delinsAG MANE Select NP_006837.2:n.1607+273_1607+274delinsAG